X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease

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Bibliographic Details
Published inLa revue de medecine interne Vol. 31; pp. S209 - S213
Main Authors Germain, D.P., Benistan, K., Angelova, L.
Format Journal Article
LanguageEnglish
Published France Elsevier SAS 01.12.2010
Subjects
Biomarkers - urine
Fabry disease
Fabry Disease - diagnosis
Fabry Disease - genetics
Fabry Disease - therapy
Fabry Disease - urine
Female
Genes, X-Linked - genetics
Genetic Counseling
Humans
Lysosomal maladie de stockage
Lysosomal storage disease
Maladie de Fabry
Trihexosylceramides - urine
Fabry disease
Maladie de Fabry
Lysosomal maladie de stockage
Lysosomal storage disease
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Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0248-8663
1768-3122
DOI:10.1016/S0248-8663(10)70013-8